Publications by authors named "Claudia Balestrini"

5 Publications

  • Page 1 of 1

Birth cohort-specific trends of sun-related behaviors among individuals from an international consortium of melanoma-prone families.

BMC Public Health 2021 04 23;21(1):692. Epub 2021 Apr 23.

Department of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands.

Background: Individuals from melanoma-prone families have similar or reduced sun-protective behaviors compared to the general population. Studies on trends in sun-related behaviors have been temporally and geographically limited.

Methods: Individuals from an international consortium of melanoma-prone families (GenoMEL) were retrospectively asked about sunscreen use, sun exposure (time spent outside), sunburns, and sunbed use at several timepoints over their lifetime. Generalized linear mixed models were used to examine the association between these outcomes and birth cohort defined by decade spans, after adjusting for covariates.

Results: A total of 2407 participants from 547 families across 17 centers were analyzed. Sunscreen use increased across subsequent birth cohorts, and although the likelihood of sunburns increased until the 1950s birth cohort, it decreased thereafter. Average sun exposure did not change across the birth cohorts, and the likelihood of sunbed use increased in more recent birth cohorts. We generally did not find any differences in sun-related behavior when comparing melanoma cases to non-cases. Melanoma cases had increased sunscreen use, decreased sun exposure, and decreased odds of sunburn and sunbed use after melanoma diagnosis compared to before diagnosis.

Conclusions: Although sunscreen use has increased and the likelihood of sunburns has decreased in more recent birth cohorts, individuals in melanoma-prone families have not reduced their overall sun exposure and had an increased likelihood of sunbed use in more recent birth cohorts. These observations demonstrate partial improvements in melanoma prevention and suggest that additional intervention strategies may be needed to achieve optimal sun-protective behavior in melanoma-prone families.
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http://dx.doi.org/10.1186/s12889-021-10424-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8063451PMC
April 2021

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

Genet Med 2016 07 17;18(7):727-36. Epub 2015 Dec 17.

Unidad de Lesiones Pigmentadas, Cátedra de Dermatología, Hospital de Clínicas, Universidad de la República, Montevideo, Uruguay.

Purpose: CDKN2A is the main high-risk melanoma-susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze CDKN2A and MC1R in patients from Latin America with familial and sporadic multiple primary melanoma (SMP) and compare the data with those for patients from Spain to establish bases for melanoma genetic counseling in Latin America.

Methods: CDKN2A and MC1R were sequenced in 186 Latin American patients from Argentina, Brazil, Chile, Mexico, and Uruguay, and in 904 Spanish patients. Clinical and phenotypic data were obtained.

Results: Overall, 24 and 14% of melanoma-prone families in Latin America and Spain, respectively, had mutations in CDKN2A. Latin American families had CDKN2A mutations more frequently (P = 0.014) than Spanish ones. Of patients with SMP, 10% of those from Latin America and 8.5% of those from Spain had mutations in CDKN2A (P = 0.623). The most recurrent CDKN2A mutations were c.-34G>T and p.G101W. Latin American patients had fairer hair (P = 0.016) and skin (P < 0.001) and a higher prevalence of MC1R variants (P = 0.003) compared with Spanish patients.

Conclusion: The inclusion criteria for genetic counseling of melanoma in Latin America may be the same criteria used in Spain, as suggested in areas with low to medium incidence, SMP with at least two melanomas, or families with at least two cases among first- or second-degree relatives.Genet Med 18 7, 727-736.
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http://dx.doi.org/10.1038/gim.2015.160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4940430PMC
July 2016

Comparative analysis of loss of heterozygosity and microsatellite instability in adult and pediatric melanoma.

Am J Dermatopathol 2005 Aug;27(4):279-85

Department of Pathology, School of Medicine, Pontificia Universidad Catolica de Chile, Santiago, Chile.

Although 0.3% of melanomas occur in children, the incidence has risen in past decades. In adult melanoma, some chromosomal regions in 1p, 6q, 9p, 10q, and 11q are frequently deleted. Microsatellite instability (MSI), which reflects impaired DNA repair, has been found at low levels in adult melanoma and melanocytic nevi. To investigate the molecular changes in pediatric melanoma, a screening for loss of heterozygosity and microsatellite instability was performed and compared with changes found in adult melanoma. Formalin-fixed, paraffin-embedded tissues from 10 adult melanomas, 9 melanocytic nevi, and 8 pediatric melanomas were microdissected and the DNA was extracted. Loss of heterozygosity and microsatellite instability were evaluated using 13 microsatellite repeat polymorphisms located in 1p36, 1q32, 2p12, 2p22-25, 2q33-37, 9p21, 10q23.3, 11q23, 13q14, 17p13, and 17q21. The overall frequency of loss of heterozygosity was 0.09 for nevi, 0.30 for adult melanoma, and 0.43 for pediatric melanoma (nevi vs. adult melanoma, P = 0.0082; nevi vs. pediatric melanoma, P = 0.0092). Pediatric melanoma has more loss of heterozygosity (44%) in 11q23 than adult melanoma (7%, P = 0.046). The microsatellite instability overall frequency was greater in pediatric melanoma (0.24) than nevi (0.05, P = 0.0031) and adult melanoma (0.09, P = 0.0195). Our findings suggest that pediatric melanoma has a different abnormal pattern than adult melanoma. Pediatric melanoma has more microsatellite instability than adult melanoma. 11q23 could contain genes related to the early age onset of melanoma. The high frequency of microsatellite instability is coincidental with the finding of higher levels of microsatellite instability in pediatric brain tumors and could play a role in the pathogenesis of pediatric melanoma.
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http://dx.doi.org/10.1097/01.dad.0000171599.40562.7cDOI Listing
August 2005

[Clinical features of 32 patients with cutaneous small vessel vasculitis].

Rev Med Chil 2004 Feb;132(2):165-70

Servicio de Dermatología y Anatomía Patológica, Hospital Barros Luco.

Background: The skin is a common target of small vessel vasculitis, with a wide assortment of pathological changes. This condition is usually associated to systemic diseases.

Aim: To report the clinical and pathological features of patients with cutaneous small vessel vasculitis.

Material And Methods: A retrospective review of 32 patients with a pathological diagnosis of cutaneous vasculitis.

Results: Seventy two percent of patients were women. Cutaneous lesions were mainly located in the lower limbs (94%). The most common lesion was palpable purpura (62%). Connective tissue diseases and systemic vasculitis were the most commonly associated systemic diseases.

Conclusions: Palpable purpura is the most common manifestation of cutaneous small vessel vasculitis, that is usually associated to connective tissue diseases or systemic vasculitis.
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http://dx.doi.org/10.4067/s0034-98872004000200005DOI Listing
February 2004

[Clinical manifestation in 5 cases of Behcet's disease].

Rev Med Chil 2002 May;130(5):551-6

Servicio de Dermatología y Anatomía Patológica, Hospital Barros Luco Trudeau.

Behçet disease is characterized by recurrent oral and genital ulcerations as well as ocular involvement. We report five patients (three women) with this condition. All had oral or genital ulcerations, nodules or pustules. Three patients had an uveitis, two had vestibular involvement and one had a meningoencephalitis. One patient died after a massive hemoptysis.
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May 2002